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Prof

John Christodoulou

Chair In Genomic Medicine
Paediatrics Royal Children'S Hospital
genetic disorders in children
functional genomics
science & technology
life sciences & biomedicine
humans
genetics & heredity
female
male
mutation
John Christodoulou's Profile Picture
Prof

John Christodoulou

 
Division
Medicine, Dentistry And Health Sciences
 
Primary Interest
discovery of new disease genes
John Christodoulou's Profile Picture
Prof

John Christodoulou

 

John Christodoulou is a medical graduate of the University of Sydney, and has formal qualifications in paediatrics and medical genetics, with his main current focus of clinical practice being in the diagnosis and management of children with inborn errors of metabolism. He undertook his formal genetic training at the Murdoch Research Institute in Melbourne, Australia, under the guidance of Garry Brown and the late David Danks, and had further postdoctoral training in genetic metabolic disorders at the Hospital for Sick Children in Toronto, Canada, under the mentorship of Joe Clarke and Rod McInnes.He has an active laboratory-based and clinical Rett syndrome research program, as well as in genetic metabolic disorders, including phenylketonuria (PKU), the mitochondrial respiratory chain (energy production) disorders and other inborn errors of metabolism, and has a strong research interest in the application of next generation sequencing technologies for disease gene discovery in rare Mendelian disorders.

He is currently the Director of the Western Sydney Genetics Program, and Professor in the Disciplines of Paediatrics and Child Health and Genetic Medicine, Sydney Medical School, University of Sydney, and in April 2013 became the Head of the Discipline of Genetic Medicine.John Christodoulou is the Chair of Genomic Medicine, Department of Paediatrics, University of Melbourne, the Co-Leader of the Brain and Mitochondrial Research Group, and Director of the Genetics Research Theme, at the Murdoch Children’s Research Institute in Melbourne, Australia. He graduated from the University of Sydney, and has formal qualifications in paediatrics, medical genetics and genetic pathology. His research interests include Rett syndrome and mitochondrial disorders, and he has a major research interest in the application of next generation sequencing (NGS) technologies in rare genetic disorders. He is the Co-Lead of the Australian Genomics Health Alliance, focusing on bringing NGS diagnostics into mainstream clinical practice in Australia. John is a former Past President of the Human Genetics Society of Australasia. In 2010 he became a Member of the General Division of the Order of Australia (AM) and in 2017 became a Fellow of the Australian Academy of Health & Medical Sciences.

Scholarly Works

Displaying the 289 most recent scholarly works by John Christodoulou.

Honours, Awards and Fellowships

2010

Member of the Order of Australia


2006

FRCPA - Fellow of the Royal College of Pathologists of Australasia


1988

FRACP - Fellow of the Royal Australasian College of Physicians


3

Awards

Credentials

Positions


Chair In Genomic Medicine

Paediatrics Royal Children'S Hospital

Founding Member

Academy of Child and Adolescent Health

Elected Member

Australian Academy of Health & Medical Sciences

Overseas Member

American College of Medical Genetics

Overseas Member

Society for the Study of Inborn Errors of Metabolism

Overseas Member

Society for Inherited Metabolic Diseases

Overseas Member

American Society of Human Genetics

Financial Member

Human Genetics Society of Australasia

Education


Doctor of Philosophy

University of Melbourne

Certified Clinical Geneticist

Human Genetics Society of Australasia

Bachelor of Medicine Bachelor of Surgery with Honours

University of Sydney